Variant report

Variant	rs117116645
Chromosome Location	chr2:32234011-32234012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr2:32233725-32234039	MCF10A-Er-Src	breast:	n/a	chr2:32233899-32233906 chr2:32233897-32233906 chr2:32233896-32233907 chr2:32233897-32233907
2	FOS	chr2:32233725-32234203	MCF10A-Er-Src	breast:	n/a	chr2:32233899-32233906 chr2:32233897-32233906 chr2:32233896-32233907 chr2:32233897-32233907
3	MXI1	chr2:32233666-32235353	SK-N-SH	brain:	n/a	n/a
4	ZNF263	chr2:32233257-32235605	HEK293-T-REx	kidney:	n/a	n/a
5	RCOR1	chr2:32233921-32234090	K562	blood:	n/a	n/a
6	STAT3	chr2:32233726-32234215	MCF10A-Er-Src	breast:	n/a	n/a
7	CUX1	chr2:32233888-32234225	K562	blood:	n/a	n/a
8	FOXA2	chr2:32233962-32234162	HepG2	liver:	n/a	n/a
9	STAT3	chr2:32233812-32234191	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr2:32233877-32235534	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr2:32233816-32234224	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr2:32233849-32234392	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr2:32233788-32234136	MCF10A-Er-Src	breast:	n/a	n/a
14	EBF1	chr2:32233774-32234198	GM12878	blood:	n/a	n/a
15	MAX	chr2:32233970-32235145	NB4	blood:	n/a	n/a
16	TBP	chr2:32233856-32234370	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr2:32233825-32234290	Hela-S3	cervix:	n/a	n/a
18	E2F4	chr2:32233865-32234270	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr2:32233639-32234511	HepG2	liver:	n/a	n/a
20	MXI1	chr2:32233583-32235366	IMR90	lung:	n/a	n/a
21	STAT3	chr2:32233748-32234364	MCF10A-Er-Src	breast:	n/a	n/a
22	FOXA1	chr2:32233920-32234219	T-47D	breast:	n/a	n/a
23	RAD21	chr2:32233856-32235091	IMR90	lung:	n/a	chr2:32234817-32234830 chr2:32234800-32234812 chr2:32234816-32234828
24	FOXA1	chr2:32233836-32234592	HepG2	liver:	n/a	n/a
25	FOS	chr2:32233789-32234061	MCF10A-Er-Src	breast:	n/a	chr2:32233899-32233906 chr2:32233897-32233906 chr2:32233896-32233907 chr2:32233897-32233907
26	MXI1	chr2:32233926-32235088	Hela-S3	cervix:	n/a	n/a
27	WRNIP1	chr2:32233946-32234641	GM12878	blood:	n/a	n/a
28	RFX5	chr2:32233870-32234376	Hela-S3	cervix:	n/a	n/a
29	EP300	chr2:32233811-32234298	GM12878	blood:	n/a	chr2:32233897-32233906
30	FOS	chr2:32233717-32234280	MCF10A-Er-Src	breast:	n/a	chr2:32233899-32233906 chr2:32233897-32233906 chr2:32233896-32233907 chr2:32233897-32233907

No.	Distal block	Cell Line	Cell type
1	chr2:32233869..32239615-chr2:32259766..32267170,13	K562	blood:
2	chr2:32232898..32237970-chr2:32287390..32290443,5	K562	blood:
3	chr2:32233185..32238105-chr2:32388775..32395245,11	K562	blood:
4	chr2:32231133..32238127-chr2:32263164..32266706,7	MCF-7	breast:
5	chr2:32233242..32236257-chr2:32247330..32249765,3	MCF-7	breast:
6	chr2:32173570..32176188-chr2:32233280..32235054,2	K562	blood:
7	chr2:32233050..32238839-chr2:32262715..32266551,10	MCF-7	breast:
8	chr2:32233869..32235900-chr2:32286911..32289660,3	K562	blood:
9	chr2:32158032..32160777-chr2:32231295..32234289,2	K562	blood:
10	chr2:32233309..32238481-chr2:32286150..32290599,7	MCF-7	breast:
11	chr2:32210208..32213123-chr2:32231743..32234482,2	K562	blood:
12	chr2:32231239..32234526-chr2:32234585..32239142,5	MCF-7	breast:
13	chr2:32233077..32237611-chr2:32388376..32395245,10	K562	blood:

Variant related genes	Relation type
ENSG00000271228	TF binding region
ENSG00000152683	Chromatin interaction
ENSG00000271228	Chromatin interaction
ENSG00000162959	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000021574	Chromatin interaction
ENSG00000162961	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv3416925	chr2:32233648-32236796	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv3339024	chr2:32233873-32237321	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32191600-32234200	Weak transcription	Lung	lung
2	chr2:32223400-32234400	Weak transcription	Spleen	Spleen
3	chr2:32225800-32234200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:32229200-32234200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:32229200-32234200	Weak transcription	Esophagus	oesophagus
6	chr2:32232000-32234200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:32232000-32234200	Weak transcription	Pancreas	Pancrea
8	chr2:32233000-32234200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr2:32233000-32234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:32233200-32234200	Flanking Active TSS	HUVEC	blood vessel
11	chr2:32233200-32234400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:32233200-32234400	Enhancers	Small Intestine	intestine
13	chr2:32233200-32234400	Flanking Active TSS	Dnd41	blood
14	chr2:32233200-32234400	Flanking Active TSS	Hela-S3	cervix
15	chr2:32233200-32234600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:32233200-32236200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:32233200-32236200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:32233400-32234200	Flanking Active TSS	NH-A	brain
19	chr2:32233400-32234400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:32233400-32234600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr2:32233400-32234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:32233400-32234600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:32233400-32236200	Active TSS	Colonic Mucosa	Colon
24	chr2:32233400-32236200	Active TSS	HSMM	muscle
25	chr2:32233400-32236400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:32233400-32236600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr2:32233400-32236600	Active TSS	Fetal Intestine Large	intestine
28	chr2:32233600-32234200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr2:32233600-32234200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:32233600-32234200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:32233600-32234200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:32233600-32234200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:32233600-32234200	Flanking Active TSS	Liver	Liver
34	chr2:32233600-32234200	Weak transcription	Left Ventricle	heart
35	chr2:32233600-32234200	Flanking Active TSS	Osteobl	bone
36	chr2:32233600-32234400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr2:32233600-32234400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:32233600-32234600	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr2:32233600-32234600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:32233600-32235000	Active TSS	Fetal Kidney	kidney
41	chr2:32233600-32236200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr2:32233600-32236200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:32233600-32236400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:32233600-32236400	Active TSS	Stomach Smooth Muscle	stomach
45	chr2:32233600-32236600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:32233600-32236600	Active TSS	Right Ventricle	heart
47	chr2:32233600-32236600	Active TSS	GM12878-XiMat	blood
48	chr2:32233600-32236600	Active TSS	HSMMtube	muscle
49	chr2:32233600-32236800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:32233600-32236800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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